1. MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel. (4th December 2015) Authors: van Karnebeek, Clara DM; Ye, X Cynthia; Abdelsayed, Mena; Selby, Katherine; Zhang, Linhua; Chijiwa, Chieko; Hendson, Glenda; Sayson, Bryan; Gill, Harinder; Balicki, Martha; Eydoux, Patrice; Ross, Colin J; Vallance, Hilary; Wasserman, Wyeth; Ruben, Peter; Lewis, Suzanne ME Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre. (14th December 2017) Authors: van Karnebeek, Clara D.M.; Dunbar, Mary; Egri, Csilla; Sayson, Bryan; Milea, Janetta; Stockler-Ipsiroglu, Sylvia; Huh, Linda; Connolly, Mary B.; Horvath, Gabriella A. Journal: Canadian journal of neurological sciences Issue: Volume 45:Number 2(2018) Page Start: 206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗